Canonical Allele Identifier: CA3908899

Gene: RIPPLY2

Linked Data

• dbSNP Id: rs374534967
• ExAC: 6:84566960 G / A
• gnomAD v2: 6-84566960-G-A
• gnomAD v3: 6-83857241-G-A
• gnomAD v4: 6-83857241-G-A
• MyVariant Identifiers: chr6:g.84566960G>A (hg19) ; chr6:g.83857241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857241G>A , CM000668.2:g.83857241G>A	GRCh38
NC_000006.11:g.84566960G>A , CM000668.1:g.84566960G>A	GRCh37
NC_000006.10:g.84623679G>A	NCBI36
NG_046722.1:g.8976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.240-1G>A MANE Select	ENSP00000358703.1:n.240-1G>A
ENST00000369687.2:c.66-1G>A	ENSP00000358701.1:n.66-1G>A
ENST00000369689.5:c.240-1G>A	ENSP00000358703.1:n.240-1G>A
ENST00000635617.1:n.3652G>A
NM_001009994.2:c.240-1G>A	NP_001009994.1:n.240-1G>A
NR_103525.1:n.297-1G>A
NR_103525.2:n.235-1G>A
NM_001009994.3:c.240-1G>A MANE Select	NP_001009994.1:n.240-1G>A
NM_001400774.1:c.-28+3080G>A	NP_001387703.1:n.-28+3080G>A
NM_001400899.1:c.303-1G>A	NP_001387828.1:n.303-1G>A
NM_001400900.1:c.*3076G>A	NP_001387829.1:n.*3076G>A
NR_174603.1:n.234+3080G>A
NR_174604.1:n.296+3080G>A
NR_174605.1:n.455+3182G>A
NR_174622.1:n.3314G>A